Polymorphonuclear leucocyte phagocytic function, γδ T-lymphocytes and testosterone as separate stress-responsive markers of prolonged, high-intensity training programs.

Excessive exercise with limited recovery may lead to detrimental states of overreaching or the overtraining syndrome. Chronic maladaptation in endocrine and immune mechanisms occur with the incidence of these states. Exercise-induced cortisol and testosterone responses have been proposed as biomarkers of overreaching, with blunted responses following intensified-training periods.

TRAP1 chaperone protein mutations and autoinflammation.

We identified a consanguineous kindred, of three affected children with severe autoinflammation, resulting in the death of one sibling and allogeneic stem cell transplantation in the other two. All three were homozygous for p.S208C mutation; however, their phenotype was more severe than previously reported, prompting consideration of an oligogenic autoinflammation model.

Monogenic mimics of Behçet's disease in the young.

Objectives: Monogenic autoinflammatory disorders (AID) and primary immunodeficiencies can present early in life with features that may be mistaken for Behçet's disease (BD). We aimed to retrospectively describe the clinical and laboratory features of 11 paediatric cases referred for suspected BD who turned out to have an alternative, monogenic disease mimicking BD.

Methods: Retrospective, paediatric BD specialist multicentre case series.

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Background: Monogenic autoinflammatory diseases (AID) are a rapidly expanding group of genetically diverse but phenotypically overlapping systemic inflammatory disorders associated with dysregulated innate immunity. They cause significant morbidity, mortality and economic burden. Here, we aimed to develop and evaluate the clinical impact of a NGS targeted gene panel, the "Vasculitis and Inflammation Panel" (VIP) for AID and vasculitis.

Frontline Science: Shh production and Gli signaling is activated in vivo in lung, enhancing the Th2 response during a murine model of allergic asthma.

The pathophysiology of allergic asthma is driven by Th2 immune responses after aeroallergen inhalation. The mechanisms that initiate, potentiate, and regulate airway allergy are incompletely characterized. We have shown that Hh signaling to T cells, via downstream Gli transcription factors, enhances T cell conversion to a Th2 phenotype.

Early-Onset Juvenile SLE Associated With a Novel Mutation in Protein Kinase C δ.

Juvenile systemic lupus erythematosus (jSLE) is rare before 5 years of age. Monogenic causes are suspected in cases of very early onset jSLE particularly in the context of a family history and/or consanguinity. We performed whole-exome sequencing and homozygosity mapping in the siblings presented with early-onset jSLE.

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.

The importance of actin dynamics in the activation of the inflammasome is becoming increasingly apparent. IL-1β, which is activated by the inflammasome, is known to be central to the pathogenesis of many monogenic autoinflammatory diseases. However, evidence from an autoinflammatory murine model indicates that IL-18, the other cytokine triggered by inflammasome activity, is important in its own right.

Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases.

Objective: To describe the clinical features, genotype, and treatment in a series of subjects with confirmed adenosine deaminase 2 (ADA2) deficiency.

Methods: All symptomatic subjects were referred for genetic testing for suspected ADA2 deficiency; relatives of index cases were also screened. Demographic, clinical, and laboratory characteristics and treatments were recorded.

Efficient water reduction with gallium phosphide nanowires.

Photoelectrochemical hydrogen production from solar energy and water offers a clean and sustainable fuel option for the future. Planar III/V material systems have shown the highest efficiencies, but are expensive. By moving to the nanowire regime the demand on material quantity is reduced, and new materials can be uncovered, such as wurtzite gallium phosphide, featuring a direct bandgap.

Photoelectrochemical hydrogen production on InP nanowire arrays with molybdenum sulfide electrocatalysts.

Semiconductor nanowire arrays are expected to be advantageous for photoelectrochemical energy conversion due to their reduced materials consumption. In addition, with the nanowire geometry the length scales for light absorption and carrier separation are decoupled, which should suppress bulk recombination. Here, we use vertically aligned p-type InP nanowire arrays, coated with noble-metal-free MoS3 nanoparticles, as the cathode for photoelectrochemical hydrogen production from water.

Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

Objective: To identify the genetic cause of chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) using whole-exome sequencing in a child who had typical clinical features but who was NLRP3 mutation negative based on conventional Sanger sequencing.

Methods: We performed whole-exome sequencing on DNA from peripheral blood, using Illumina TruSeq Exome capture and the HiSeq sequencing platform. Exome data were analyzed in the Galaxy Web-based suite.

European Union's public fishing access agreements in developing countries.

The imperative to increase seafood supply while dealing with its overfished local stocks has pushed the European Union (EU) and its Member States to fish in the Exclusive Economic Zones of other countries through various types of fishing agreements for decades. Although European public fishing agreements are commented on regularly and considered to be transparent, this is the first global and historical study on the fee regime that governs them. We find that the EU has subsidized these agreements at an average of 75% of their cost (financial contribution agreed upon in the agreements), while private European business interests paid the equivalent of 1.

High yield transfer of ordered nanowire arrays into transparent flexible polymer films.

The factors affecting transfer of nanowire arrays from their substrates into flexible PDMS films have been systematically investigated. Experiments were carried out on gallium phosphide nanowires with a standard length of 10 μm with varying pitch (0.2-1.